메뉴 건너뛰기




Volumn 134, Issue 2, 2006, Pages 125-136

Acquired and inherited disorders of cobalamin and folate in children

Author keywords

Cobalamin; Folate; Homocysteine; Megaloblastic anaemia; Methylmalonic acid

Indexed keywords

ABSORPTION; COBALAMIN DEFICIENCY; DOWN SYNDROME; FOLATE METABOLISM; FOLIC ACID DEFICIENCY; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; HUMAN; INBORN ERROR OF METABOLISM; METABOLIC DISORDER; NEURAL TUBE DEFECT; PRIORITY JOURNAL; REVIEW; VITAMIN METABOLISM;

EID: 33745146118     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2006.06133.x     Document Type: Review
Times cited : (128)

References (117)
  • 1
    • 0025331267 scopus 로고
    • Diagnosis of cobalamin deficiency I: Usefulness of serum methylmalonic acid and total homocysteine concentrations
    • Allen R.H. Stabler S.P. Savage D.G. Lindenbaum J. ( 1990) Diagnosis of cobalamin deficiency I: usefulness of serum methylmalonic acid and total homocysteine concentrations. American Journal of Hematology, 34, 90 98.
    • (1990) American Journal of Hematology , vol.34 , pp. 90-98
    • Allen, R.H.1    Stabler, S.P.2    Savage, D.G.3    Lindenbaum, J.4
  • 3
    • 0242585035 scopus 로고    scopus 로고
    • Frequency of Down's syndrome and neural-tube defects in the same family
    • Barkai G. Arbuzova S. Berkenstadt M. Heifetz S. Cuckle H. ( 2003) Frequency of Down's syndrome and neural-tube defects in the same family. The Lancet, 361, 1331 1335.
    • (2003) The Lancet , vol.361 , pp. 1331-1335
    • Barkai, G.1    Arbuzova, S.2    Berkenstadt, M.3    Heifetz, S.4    Cuckle, H.5
  • 8
    • 0042194787 scopus 로고    scopus 로고
    • Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome
    • Bosco P. Guéant-Rodriguez R.M. Anello G. Barone C. Namour F. Caraci F. Romano A. Romano C. Guéant J.L. ( 2003) Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. American Journal of Medical Genetics A, 121, 219 224.
    • (2003) American Journal of Medical Genetics a , vol.121 , pp. 219-224
    • Bosco, P.1    Guéant-Rodriguez, R.M.2    Anello, G.3    Barone, C.4    Namour, F.5    Caraci, F.6    Romano, A.7    Romano, C.8    Guéant, J.L.9
  • 11
    • 33644613231 scopus 로고    scopus 로고
    • The food and drug administration must require the addition of more folic acid in 'enriched' flour and other grains
    • Brent R.L. Oakley Jr., G.P. ( 2005) The food and drug administration must require the addition of more folic acid in 'enriched' flour and other grains. Pediatrics, 116, 753 755.
    • (2005) Pediatrics , vol.116 , pp. 753-755
    • Brent, R.L.1    Oakley Jr., G.P.2
  • 12
    • 0033780909 scopus 로고    scopus 로고
    • The unnecessary epidemic of folic acid-preventable spina bifida and anencephaly
    • Brent R.L. Oakley Jr., G.P. Mattison D.R. ( 2000) The unnecessary epidemic of folic acid-preventable spina bifida and anencephaly. Pediatrics, 106, 825 827.
    • (2000) Pediatrics , vol.106 , pp. 825-827
    • Brent, R.L.1    Oakley Jr., G.P.2    Mattison, D.R.3
  • 13
    • 18644379774 scopus 로고    scopus 로고
    • A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: Report of the Birth Defects Research Group
    • Brody L.C. Conley M. Cox C. Kirke P.N. McKeever M.P. Mills J.L. Molloy A.M. O'Leary V.B. Parle-McDermott A. Scott J.M. Swanson D.A. ( 2002) A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. American Journal of Human Genetics, 71, 1207 1215.
    • (2002) American Journal of Human Genetics , vol.71 , pp. 1207-1215
    • Brody, L.C.1    Conley, M.2    Cox, C.3    Kirke, P.N.4    McKeever, M.P.5    Mills, J.L.6    Molloy, A.M.7    O'Leary, V.B.8    Parle-Mcdermott, A.9    Scott, J.M.10    Swanson, D.A.11
  • 15
    • 27644569002 scopus 로고    scopus 로고
    • Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: Findings from a multi-state population-based study
    • National Birth Defects Prevention Network (
    • Canfield M.A. Collins J.S. Botto L.D. Williams L.J. Mai C.T. Kirby R.S. Pearson K. Devine O. Mulinare J. National Birth Defects Prevention Network ( 2005) Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: findings from a multi-state population-based study. Birth Defects Research A Clinical and Molecular Teratology, 73, 679 689.
    • (2005) Birth Defects Research a Clinical and Molecular Teratology , vol.73 , pp. 679-689
    • Canfield, M.A.1    Collins, J.S.2    Botto, L.D.3    Williams, L.J.4    Mai, C.T.5    Kirby, R.S.6    Pearson, K.7    Devine, O.8    Mulinare, J.9
  • 17
    • 0030866169 scopus 로고    scopus 로고
    • Vitamin B-12 deficiency is very prevalent in lactating Guatemalan women and their infants at three months postpartum
    • Casterline J.E. Allen L.H. Ruel M.T. ( 1997) Vitamin B-12 deficiency is very prevalent in lactating Guatemalan women and their infants at three months postpartum. Journal of Nutrition, 127, 1966 1972.
    • (1997) Journal of Nutrition , vol.127 , pp. 1966-1972
    • Casterline, J.E.1    Allen, L.H.2    Ruel, M.T.3
  • 18
    • 0037474319 scopus 로고    scopus 로고
    • Neurologic impairment in children associated with maternal dietary deficiency of cobalamin - Georgia, 2001
    • Centers for Disease Control and Prevention (CDC) (
    • Centers for Disease Control and Prevention (CDC) ( 2003) Neurologic impairment in children associated with maternal dietary deficiency of cobalamin - Georgia, 2001. Morbidity and Mortality Weekly Report, 52, 61 64.
    • (2003) Morbidity and Mortality Weekly Report , vol.52 , pp. 61-64
  • 19
    • 2342631856 scopus 로고    scopus 로고
    • Spina bifida and anencephaly before and after folic acid mandate - United States, 1995-1996 and 1999-2000
    • Centers for Disease Control and Prevention (
    • Centers for Disease Control and Prevention ( 2004) Spina bifida and anencephaly before and after folic acid mandate - United States, 1995-1996 and 1999-2000. Morbidity and Mortality Weekly Report, 53, 362 365.
    • (2004) Morbidity and Mortality Weekly Report , vol.53 , pp. 362-365
  • 21
    • 22144478676 scopus 로고    scopus 로고
    • Coma and respiratory failure in a child with severe vitamin B(12) deficiency
    • Codazzi D. Sala F. Parini R. Langer M. ( 2005) Coma and respiratory failure in a child with severe vitamin B(12) deficiency. Pediatric Critical Care Medicine, 6, 483 485.
    • (2005) Pediatric Critical Care Medicine , vol.6 , pp. 483-485
    • Codazzi, D.1    Sala, F.2    Parini, R.3    Langer, M.4
  • 22
    • 0027080461 scopus 로고
    • Prevention of the first occurrence of neural tube defects by periconceptual vitamin supplementation
    • Czeizel A.E. Dudas I. ( 1992) Prevention of the first occurrence of neural tube defects by periconceptual vitamin supplementation. New England Journal of Medicine, 327, 1832 1835.
    • (1992) New England Journal of Medicine , vol.327 , pp. 1832-1835
    • Czeizel, A.E.1    Dudas, I.2
  • 25
    • 27744531050 scopus 로고    scopus 로고
    • The effect of folate fortification of cereal-grain products on blood folate status, dietary folate intake, and dietary folate sources among adult non-supplement users in the United States
    • Dietrich M. Brown C.J. Block G. ( 2005) The effect of folate fortification of cereal-grain products on blood folate status, dietary folate intake, and dietary folate sources among adult non-supplement users in the United States. Journal of the American College of Nutrition, 24, 266 274.
    • (2005) Journal of the American College of Nutrition , vol.24 , pp. 266-274
    • Dietrich, M.1    Brown, C.J.2    Block, G.3
  • 30
    • 0030934567 scopus 로고    scopus 로고
    • Vitamin B12 deficiency: A cause of abnormal movements in infants
    • Emery E.S. Homans A.C. Colletti R.B. ( 1997) Vitamin B12 deficiency: a cause of abnormal movements in infants. Pediatrics, 99, 255 256.
    • (1997) Pediatrics , vol.99 , pp. 255-256
    • Emery, E.S.1    Homans, A.C.2    Colletti, R.B.3
  • 31
    • 31344433444 scopus 로고    scopus 로고
    • Abnormal folate metabolism in mothers with Down syndrome offspring: Review of the literature
    • Eskes T.K. ( 2006) Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature. European Journal of Obstetrics, Gynecology and Reproductive Biology, 124, 130 133.
    • (2006) European Journal of Obstetrics, Gynecology and Reproductive Biology , vol.124 , pp. 130-133
    • Eskes, T.K.1
  • 32
    • 0001716641 scopus 로고    scopus 로고
    • Food standards: Amendment of standards of identity for enriched grain products to require addition of folic acid
    • Food and Drug Administration (
    • Food and Drug Administration ( 1996) Food standards: amendment of standards of identity for enriched grain products to require addition of folic acid. Federal Register, 61, 8781 8797.
    • (1996) Federal Register , vol.61 , pp. 8781-8797
  • 35
    • 0036143484 scopus 로고    scopus 로고
    • Hereditary folate malabsorption: Family report and review of the literature
    • Geller J. Kronn D. Jayabose S. Sandoval C. ( 2002) Hereditary folate malabsorption: family report and review of the literature. Medicine (Baltimore), 81, 51 68.
    • (2002) Medicine (Baltimore) , vol.81 , pp. 51-68
    • Geller, J.1    Kronn, D.2    Jayabose, S.3    Sandoval, C.4
  • 36
    • 0031942262 scopus 로고    scopus 로고
    • Persistence of neurological damage induced by dietary vitamin B-12 deficiency in infancy
    • Goraya J.S. ( 1998) Persistence of neurological damage induced by dietary vitamin B-12 deficiency in infancy. Archives of Disease in Childhood, 78, 395.
    • (1998) Archives of Disease in Childhood , vol.78 , pp. 395
    • Goraya, J.S.1
  • 45
    • 0034804914 scopus 로고    scopus 로고
    • Markers for the functional availability of cobalamin/folate and their association with neuropsychiatric symptoms in the elderly
    • Hultberg B. Isaksson A. Nilsson K. Gustafson L. ( 2001) Markers for the functional availability of cobalamin/folate and their association with neuropsychiatric symptoms in the elderly. International Journal of Geriatric Psychiatry, 16, 873 878.
    • (2001) International Journal of Geriatric Psychiatry , vol.16 , pp. 873-878
    • Hultberg, B.1    Isaksson, A.2    Nilsson, K.3    Gustafson, L.4
  • 46
    • 14844317329 scopus 로고    scopus 로고
    • Holotranscobalamin - A first choice assay for diagnosing early vitamin B deficiency?
    • Hvas A.M. Nexø E. ( 2005) Holotranscobalamin - a first choice assay for diagnosing early vitamin B deficiency? Journal of Internal Medicine, 257, 289 298.
    • (2005) Journal of Internal Medicine , vol.257 , pp. 289-298
    • Hvas, A.M.1    Nexø, E.2
  • 47
    • 3142737186 scopus 로고    scopus 로고
    • Maternal metabolic phenotype and risk of Down syndrome: Beyond genetics
    • James S.J. ( 2004) Maternal metabolic phenotype and risk of Down syndrome: beyond genetics. American Journal of Medical Genetics A, 127, 1 4.
    • (2004) American Journal of Medical Genetics a , vol.127 , pp. 1-4
    • James, S.J.1
  • 51
    • 2442668914 scopus 로고    scopus 로고
    • Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: Case report and review of the literature
    • Korenke G.C. Hunneman D.H. Eber S. Hanefeld F. ( 2004) Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature. European Journal of Pediatrics, 163, 196 201.
    • (2004) European Journal of Pediatrics , vol.163 , pp. 196-201
    • Korenke, G.C.1    Hunneman, D.H.2    Eber, S.3    Hanefeld, F.4
  • 52
    • 0034661941 scopus 로고    scopus 로고
    • Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin
    • Kristiansen M. Aminoff M. Jacobsen C. de la Chapelle A. Krahe R. Verroust P.J. Moestrup S.K. ( 2000) Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. Blood, 96, 405 409.
    • (2000) Blood , vol.96 , pp. 405-409
    • Kristiansen, M.1    Aminoff, M.2    Jacobsen, C.3    De La Chapelle, A.4    Krahe, R.5    Verroust, P.J.6    Moestrup, S.K.7
  • 55
    • 28344446460 scopus 로고    scopus 로고
    • Mechanisms of homocysteine-induced atherothrombosis
    • Lentz S.R. ( 2005) Mechanisms of homocysteine-induced atherothrombosis. Journal of Thrombosis and Haemostasis, 3, 1646 1654.
    • (2005) Journal of Thrombosis and Haemostasis , vol.3 , pp. 1646-1654
    • Lentz, S.R.1
  • 59
    • 27744471516 scopus 로고    scopus 로고
    • Meta-analysis of MTHFR 677C->T polymorphism and coronary heart disease: Does totality of evidence support causal role for homocysteine and preventive potential of folate?
    • Lewis S.J. Ebrahim S. Davey Smith G. ( 2005) Meta-analysis of MTHFR 677C->T polymorphism and coronary heart disease: does totality of evidence support causal role for homocysteine and preventive potential of folate? British Medical Journal, 331, 1053 1058.
    • (2005) British Medical Journal , vol.331 , pp. 1053-1058
    • Lewis, S.J.1    Ebrahim, S.2    Davey Smith, G.3
  • 66
    • 33645049011 scopus 로고    scopus 로고
    • Erythrocyte folate, plasma folate and plasma homocysteine during normal pregnancy and postpartum: A longitudinal study comprising 404 Danish women
    • Milman N. Byg K.E. Hvas A.M. Bergholt T. Eriksen L. ( 2006) Erythrocyte folate, plasma folate and plasma homocysteine during normal pregnancy and postpartum: a longitudinal study comprising 404 Danish women. European Journal of Haematology, 76, 200 205.
    • (2006) European Journal of Haematology , vol.76 , pp. 200-205
    • Milman, N.1    Byg, K.E.2    Hvas, A.M.3    Bergholt, T.4    Eriksen, L.5
  • 67
    • 0034941332 scopus 로고    scopus 로고
    • Megalin- and cubilin-mediated endocytosis of protein-bound vitamins, lipids, and hormones in polarized epithelia
    • Moestrup S.K. Verroust P.J. ( 2001) Megalin- and cubilin-mediated endocytosis of protein-bound vitamins, lipids, and hormones in polarized epithelia. Annual Review of Nutrition, 21, 407 428.
    • (2001) Annual Review of Nutrition , vol.21 , pp. 407-428
    • Moestrup, S.K.1    Verroust, P.J.2
  • 68
    • 33745179599 scopus 로고    scopus 로고
    • Inborn errors of folate and cobalamin transport and metabolism
    • In: ed. by. K. Sarafoglou. G. Hoffmann. T. Moran. McGraw Hill, New York (. in press).
    • Morel C. Rosenblatt D. ( 2006) Inborn errors of folate and cobalamin transport and metabolism. In : Essential Pediatric Endocrinology and Metabolism, 1st edn ed. by K. Sarafoglou G. Hoffmann T. Moran McGraw Hill, New York ( in press).
    • (2006) Essential Pediatric Endocrinology and Metabolism, 1st Edn
    • Morel, C.1    Rosenblatt, D.2
  • 69
    • 26244434932 scopus 로고    scopus 로고
    • Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B(12) metabolism and transport
    • Morel C.F. Watkins D. Scott P. Rinaldo P. Rosenblatt D.S. ( 2005) Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B(12) metabolism and transport. Molecular Genetics and Metabolism, 86, 160 171.
    • (2005) Molecular Genetics and Metabolism , vol.86 , pp. 160-171
    • Morel, C.F.1    Watkins, D.2    Scott, P.3    Rinaldo, P.4    Rosenblatt, D.S.5
  • 71
    • 0025863475 scopus 로고
    • Prevention of neural tube defects: Results of the Medical Research Council Vitamin study
    • MRC Vitamin Study Research Group (
    • MRC Vitamin Study Research Group ( 1991) Prevention of neural tube defects: results of the Medical Research Council Vitamin study. The Lancet, 338, 131 137.
    • (1991) The Lancet , vol.338 , pp. 131-137
  • 76
    • 10044271986 scopus 로고    scopus 로고
    • Recommendations for accelerating global action to prevent folic acid-preventable birth defects and other folate-deficiency diseases: Meeting of experts on preventing folic acid-preventable neural tube defects
    • Oakley Jr., G.P. Bell K.N. Weber M.B. ( 2004) Recommendations for accelerating global action to prevent folic acid-preventable birth defects and other folate-deficiency diseases: meeting of experts on preventing folic acid-preventable neural tube defects. Birth Defects Research (Part A) Clinical and Molecular Teratology, 70, 835 837.
    • (2004) Birth Defects Research (Part A) Clinical and Molecular Teratology , vol.70 , pp. 835-837
    • Oakley Jr., G.P.1    Bell, K.N.2    Weber, M.B.3
  • 77
    • 9744242759 scopus 로고    scopus 로고
    • The risk of folate and vitamin B(12) deficiencies associated with hyperhomocysteinemia among pregnant women
    • Park H. Kim Y.J. Ha E.H. Kim K.N. Chang N. ( 2004) The risk of folate and vitamin B(12) deficiencies associated with hyperhomocysteinemia among pregnant women. American Journal of Perinatology, 21, 469 475.
    • (2004) American Journal of Perinatology , vol.21 , pp. 469-475
    • Park, H.1    Kim, Y.J.2    Ha, E.H.3    Kim, K.N.4    Chang, N.5
  • 80
    • 24044507638 scopus 로고    scopus 로고
    • Biochemical indicators of B vitamin status in the US population after folic acid fortification: Results from the National Health and Nutrition Examination Survey 1999-2000
    • Pfeiffer C.M. Caudill S.P. Gunter E.W. Osterloh J. Sampson E.J. ( 2005) Biochemical indicators of B vitamin status in the US population after folic acid fortification: results from the National Health and Nutrition Examination Survey 1999-2000. American Journal of Clinical Nutrition, 82, 442 450.
    • (2005) American Journal of Clinical Nutrition , vol.82 , pp. 442-450
    • Pfeiffer, C.M.1    Caudill, S.P.2    Gunter, E.W.3    Osterloh, J.4    Sampson, E.J.5
  • 81
    • 0041385695 scopus 로고    scopus 로고
    • Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida
    • Pietrzyk J.J. Bik-Multanowski M. Sanak M. Twardowska M. ( 2003) Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida. Journal of Applied Genetics, 44, 111 113.
    • (2003) Journal of Applied Genetics , vol.44 , pp. 111-113
    • Pietrzyk, J.J.1    Bik-Multanowski, M.2    Sanak, M.3    Twardowska, M.4
  • 85
    • 0037153743 scopus 로고    scopus 로고
    • Association of neural tube defects and folic acid food fortification in Canada
    • Ray J.G. Meier C. Vermeulen M.J. Boss S. Wyatt P.R. Cole D.E. ( 2002) Association of neural tube defects and folic acid food fortification in Canada. The Lancet, 360, 2047 2048.
    • (2002) The Lancet , vol.360 , pp. 2047-2048
    • Ray, J.G.1    Meier, C.2    Vermeulen, M.J.3    Boss, S.4    Wyatt, P.R.5    Cole, D.E.6
  • 86
    • 17444426300 scopus 로고    scopus 로고
    • Vitamin B12 deficiency presenting as oedema in infants of vegetarian mothers
    • Reghu A. Hosdurga S. Sandhu B. Spray C. ( 2005) Vitamin B12 deficiency presenting as oedema in infants of vegetarian mothers. European Journal of Pediatrics, 164, 257 258.
    • (2005) European Journal of Pediatrics , vol.164 , pp. 257-258
    • Reghu, A.1    Hosdurga, S.2    Sandhu, B.3    Spray, C.4
  • 87
  • 89
    • 0037306913 scopus 로고    scopus 로고
    • High prevalence of cobalamin deficiency in Guatemalan school children: Associations with low plasma holotranscobalamin II and elevated serum methylmalonic acid and plasma homocysteine concentrations
    • Rogers L.M. Boy E. Miller J.W. Green R. Sabel J.C. Allen L.H. ( 2003) High prevalence of cobalamin deficiency in Guatemalan school children: associations with low plasma holotranscobalamin II and elevated serum methylmalonic acid and plasma homocysteine concentrations. American Journal of Clinical Nutrition, 77, 433 440.
    • (2003) American Journal of Clinical Nutrition , vol.77 , pp. 433-440
    • Rogers, L.M.1    Boy, E.2    Miller, J.W.3    Green, R.4    Sabel, J.C.5    Allen, L.H.6
  • 91
    • 0001912321 scopus 로고    scopus 로고
    • Inherited disorders of folate and cobalamin transport and metabolism
    • In: 8th edn. ed. by. C.R. Scriver. A.L. Beaudet. W.S. Sly. D. Valle. co-ed. by. B. Childs. K.W. Kinzler. B. Vogelstein. pp. McGraw-Hill, New York.
    • Rosenblatt D.S. Fenton W.A. ( 2001) Inherited disorders of folate and cobalamin transport and metabolism. In : The Metabolic and Molecular Bases of Inherited Metabolic Disease, 8th edn ed. by C.R. Scriver A.L. Beaudet W.S. Sly D. Valle co-ed. by B. Childs K.W. Kinzler B. Vogelstein pp. 3897 3933. McGraw-Hill, New York.
    • (2001) The Metabolic and Molecular Bases of Inherited Metabolic Disease , pp. 3897-3933
    • Rosenblatt, D.S.1    Fenton, W.A.2
  • 92
    • 0032941095 scopus 로고    scopus 로고
    • Cobalamin and folate deficiency: Acquired and hereditary disorders in children
    • Rosenblatt D.S. Whitehead V.M. ( 1999) Cobalamin and folate deficiency: acquired and hereditary disorders in children. Seminars in Hematology, 36, 19 34.
    • (1999) Seminars in Hematology , vol.36 , pp. 19-34
    • Rosenblatt, D.S.1    Whitehead, V.M.2
  • 94
    • 0030883125 scopus 로고    scopus 로고
    • Persistence of neurological damage induced by dietary vitamin B-12 deficiency in infancy
    • von Schenck U. Bender-Götze C. Koletzko B. ( 1997) Persistence of neurological damage induced by dietary vitamin B-12 deficiency in infancy. Archives of Diseases of Childhood, 77, 137 139.
    • (1997) Archives of Diseases of Childhood , vol.77 , pp. 137-139
    • Von Schenck, U.1    Bender-Götze, C.2    Koletzko, B.3
  • 95
    • 0038462011 scopus 로고    scopus 로고
    • Adverse effect of nitrous oxide in a child with 5,10- methylenetetrahydrofolate reductase deficiency
    • Selzer R.R. Rosenblatt D.S. Laxova R. Hogan K. ( 2003) Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency. New England Journal of Medicine, 349, 45 50.
    • (2003) New England Journal of Medicine , vol.349 , pp. 45-50
    • Selzer, R.R.1    Rosenblatt, D.S.2    Laxova, R.3    Hogan, K.4
  • 96
    • 0037327691 scopus 로고    scopus 로고
    • Gene polymorphism and folate metabolism: A maternal risk factor for Down syndrome
    • Sheth J.J. Sheth F.J. ( 2003) Gene polymorphism and folate metabolism: a maternal risk factor for Down syndrome. Indian Pediatrics, 40, 115 123.
    • (2003) Indian Pediatrics , vol.40 , pp. 115-123
    • Sheth, J.J.1    Sheth, F.J.2
  • 99
    • 3142673339 scopus 로고    scopus 로고
    • Vitamin B12 deficiency as a worldwide problem
    • Stabler S.P. Allen R.H. ( 2004) Vitamin B12 deficiency as a worldwide problem. Annual Review of Nutrition, 24, 299 326.
    • (2004) Annual Review of Nutrition , vol.24 , pp. 299-326
    • Stabler, S.P.1    Allen, R.H.2
  • 105
    • 31544476516 scopus 로고    scopus 로고
    • Nutrigenetics in cancer research - Folate metabolism and colorectal cancer
    • Ulrich C.M. ( 2005) Nutrigenetics in cancer research - folate metabolism and colorectal cancer. Journal of Nutrition, 135, 2698 2702.
    • (2005) Journal of Nutrition , vol.135 , pp. 2698-2702
    • Ulrich, C.M.1
  • 107
    • 47249166179 scopus 로고    scopus 로고
    • Neural tube defects, other congenital malformations and single nucleotide polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene: A meta-analysis
    • In: ed. by. P.M. Ueland. R. Rozen. pp. Landes Bioscience/Eurekah.com, Georgetown, TX.
    • Vollset S.E. Botto L.D. ( 2004) Neural tube defects, other congenital malformations and single nucleotide polymorphisms in the 5,10- methylenetetrahydrofolate reductase (MTHFR) gene: a meta-analysis. In : MTHFR Polymorphisms and Disease ( ed. by P.M. Ueland R. Rozen pp. 126 144. Landes Bioscience/Eurekah.com, Georgetown, TX.
    • (2004) MTHFR Polymorphisms and Disease , pp. 126-144
    • Vollset, S.E.1    Botto, L.D.2
  • 108
    • 0033938389 scopus 로고    scopus 로고
    • Complementation studies in the cblA class of inborn error of cobalamin metabolism: Evidence for interallelic complementation and for a new complementation class (cblH)
    • Watkins D. Matiaszuk N. Rosenblatt D.S. ( 2000) Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH). Journal of Medical Genetics, 37, 510 513.
    • (2000) Journal of Medical Genetics , vol.37 , pp. 510-513
    • Watkins, D.1    Matiaszuk, N.2    Rosenblatt, D.S.3
  • 110
    • 0031687887 scopus 로고    scopus 로고
    • A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
    • Weisberg I. Tran P. Christensen B. Sibani S. Rozen R. ( 1998) A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Molecular Genetics and Metabolism, 64, 169 172.
    • (1998) Molecular Genetics and Metabolism , vol.64 , pp. 169-172
    • Weisberg, I.1    Tran, P.2    Christensen, B.3    Sibani, S.4    Rozen, R.5
  • 111
    • 3042823706 scopus 로고    scopus 로고
    • Severe vitamin B12 deficiency in an infant associated with a maternal deficiency and a strict vegetarian diet
    • Weiss R. Fogelman Y. Bennett M. ( 2004) Severe vitamin B12 deficiency in an infant associated with a maternal deficiency and a strict vegetarian diet. Journal of Pediatric Hematology and Oncology, 26, 270 271.
    • (2004) Journal of Pediatric Hematology and Oncology , vol.26 , pp. 270-271
    • Weiss, R.1    Fogelman, Y.2    Bennett, M.3
  • 114
    • 0032862179 scopus 로고    scopus 로고
    • Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism
    • Wilson A. Leclerc D. Rosenblatt D.S. Gravel R.A. ( 1999a) Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. Human Molecular Genetics, 8, 2009 2016.
    • (1999) Human Molecular Genetics , vol.8 , pp. 2009-2016
    • Wilson, A.1    Leclerc, D.2    Rosenblatt, D.S.3    Gravel, R.A.4
  • 117
    • 0842307311 scopus 로고    scopus 로고
    • Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency
    • Yassin F. Rothenberg S.P. Rao S. Gordon M.M. Alpers D.H. Quadros E.V. ( 2004) Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency. Blood, 103, 1515 1517.
    • (2004) Blood , vol.103 , pp. 1515-1517
    • Yassin, F.1    Rothenberg, S.P.2    Rao, S.3    Gordon, M.M.4    Alpers, D.H.5    Quadros, E.V.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.